Canonical Allele Identifier: CA379920798

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250310G>C , CM000673.2:g.22250310G>C	GRCh38
NC_000011.9:g.22271856G>C , CM000673.1:g.22271856G>C	GRCh37
NC_000011.8:g.22228432G>C	NCBI36
NG_015844.1:g.62135G>C , LRG_868:g.62135G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.952G>C MANE Select	NP_998764.1:p.Ala318Pro
ENST00000324559.9:c.952G>C MANE Select	ENSP00000315371.9:p.Ala318Pro
NM_001142649.1:c.949G>C	NP_001136121.1:p.Ala317Pro
NM_001142649.2:c.949G>C	NP_001136121.1:p.Ala317Pro
NM_213599.2:c.952G>C , LRG_868t1:c.952G>C	NP_998764.1:p.Ala318Pro
ENST00000324559.8:c.952G>C	ENSP00000315371.8:p.Ala318Pro
ENST00000648804.1:n.1287G>C
ENST00000682089.1:n.272G>C
ENST00000682266.1:c.502G>C	ENSP00000507766.1:p.Ala168Pro
ENST00000682341.1:c.910G>C	ENSP00000508251.1:p.Ala304Pro
ENST00000682530.1:c.*884G>C	ENSP00000506805.1:n.*884G>C
ENST00000683197.1:c.910G>C	ENSP00000507641.1:p.Ala304Pro
ENST00000683411.1:c.502G>C	ENSP00000508397.1:p.Ala168Pro
ENST00000683437.1:c.502G>C	ENSP00000508408.1:p.Ala168Pro
ENST00000683613.1:n.1946G>C
ENST00000683834.1:n.1152G>C
ENST00000684663.1:c.907G>C	ENSP00000508009.1:p.Ala303Pro
XM_005252820.2:c.910G>C	XP_005252877.2:p.Ala304Pro
XM_005252820.3:c.910G>C	XP_005252877.2:p.Ala304Pro
XM_005252821.2:c.907G>C	XP_005252878.2:p.Ala303Pro
XM_005252821.3:c.907G>C	XP_005252878.2:p.Ala303Pro
XM_005252822.3:c.874G>C	XP_005252879.1:p.Ala292Pro
XM_005252822.4:c.874G>C	XP_005252879.1:p.Ala292Pro
XM_005252823.3:c.871G>C	XP_005252880.1:p.Ala291Pro
XM_011519949.1:c.859G>C	XP_011518251.1:p.Ala287Pro
XM_011519949.2:c.859G>C	XP_011518251.1:p.Ala287Pro